Junctional epidermolysis bullosa, Herlitz type
ORPHA: 79404
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Junctional epidermolysis bullosa, Herlitz type, sourced from HPO and Orphanet clinical annotations.
Fragile skinFailure to thriveGrowth delayRecurrent skin infectionsAbnormal nail morphologyEnamel hypoplasiaAbnormal blistering of the skinAbnormal oral mucosa morphologyHypoplastic dermoepidermal hemidesmosomesSkin plaqueSkin erosionAbnormal fingertip morphologyHoarse voiceAnonychiaParonychiaAnemiaDyspneaMalnutritionStridorErosion of oral mucosaMulticystic kidney dysplasiaRecurrent urinary tract infectionsAbnormality of the bladderUrinary retentionUreteroceleHydroureterDuplicated collecting systemRenal cystHydronephrosisAbnormal cornea morphologyOsteoporosisEdemaAplasia cutis congenitaAlopeciaLaryngeal stenosisHoarse cryDilated cardiomyopathyDehydrationUnexplained feversVomitingConstipationEsophageal strictureAbnormality of the upper respiratory tractPneumoniaRespiratory distressSquamous cell carcinomaRespiratory failureAbnormal blood ion concentrationMitten deformityGastrointestinal inflammationUreteral obstructionNail dystrophyRenal tubular epithelial necrosisAplasia/Hypoplasia of the bladderUrethral strictureDysuriaSepsisPyodermaSeizureBradycardiaPneumothorax
Classification & Codes
Orphanet Code
ORPHA:79404Junctional epidermolysis bullosa, Herlitz type
| Orphanet | ORPHA:79404 |
| Treatments | 0 drug(s) |
| Symptoms on record | 61 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO